Entrez gene ID | | 7535 |
Official gene symbol | | ZAP70 |
Full name | | zeta-chain (TCR) associated protein kinase 70kDa |
Aliases | | ,FLJ17670,FLJ17679,SRK,STD,TZK,ZAP-70, |
Gene summary | | This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation, functions in the initial step of TCR-mediated signal transduction in combination with the Src family kinases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 2 Locus: 2q12 |
Gene position | | 98330031 - 98356323 Map Viewer |
Gene orientation | | plus |
Gene size | | 26293 bp |
Gene sequence |
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OMIM ID | | 176947 |
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